Associated Papers
Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.
Sheppard S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
29907799 (PubMed )
Supplement: 41436_2018_4_MOESM3_ESM.xlsx › variant-_capture___coverage
AMKL chimeric transcription factors are potent inducers of leukemia.
Dang J et al.
Leukemia, 2017
Mutation spectrum and genotype-phenotype correlation in Cornelia de Lange syndrome.
Mannini L et al.
Human Mutation, 2013
Isolated NIBPL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interaction.
Braunholz D et al.
European Journal of Human Genetics : Ejhg, 2012
Genotype-phenotype correlations of 39 patients with Cornelia De Lange syndrome: the Dutch experience.
Bhuiyan ZA et al.
Journal of Medical Genetics, 2006
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